ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63086005del , CM000670.2:g.63086005del | GRCh38 |
| NC_000008.10:g.63998564del , CM000670.1:g.63998564del | GRCh37 |
| NC_000008.9:g.64161118del | NCBI36 |
| NG_016123.1:g.5051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.19del MANE Select | ENSP00000260116.4:p.Gln7SerfsTer? | |
| ENST00000260116.4:c.19del | ENSP00000260116.4:p.Gln7SerfsTer? | |
| ENST00000521138.1:n.47del | ||
| NM_000370.3:c.19del MANE Select | NP_000361.1:p.Gln7SerfsTer? | |
| XM_006716468.2:c.19del | XP_006716531.1:p.Gln7SerfsTer? | |
| XM_006716468.4:c.19del | XP_006716531.1:p.Gln7SerfsTer? |